Incidental Mutation 'R9765:Ppp4r4'
| ID |
733220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r4
|
| Ensembl Gene |
ENSMUSG00000021209 |
| Gene Name |
protein phosphatase 4, regulatory subunit 4 |
| Synonyms |
8430415E04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103498542-103580090 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 103550346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 257
(E257*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000187155]
[ENSMUST00000189871]
[ENSMUST00000190664]
|
| AlphaFold |
Q8C0Y0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021631
AA Change: E257*
|
| SMART Domains |
Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: E257*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
55 |
577 |
6e-27 |
SMART |
|
PDB:3FGA|A
|
178 |
666 |
8e-6 |
PDB |
|
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187155
AA Change: E148*
|
| SMART Domains |
Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: E148*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
145 |
175 |
2.8e-3 |
PFAM |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
coiled coil region
|
581 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189871
AA Change: E257*
|
| SMART Domains |
Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: E257*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
95 |
577 |
7e-26 |
SMART |
|
PDB:1B3U|B
|
178 |
666 |
2e-6 |
PDB |
|
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190664
AA Change: E41*
|
| SMART Domains |
Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
AA Change: E41*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
38 |
68 |
5.8e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,404,829 (GRCm39) |
V25I |
probably benign |
Het |
| Actr1b |
T |
A |
1: 36,741,677 (GRCm39) |
H65L |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,748,491 (GRCm39) |
G440E |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,930,500 (GRCm39) |
D1992E |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,632,809 (GRCm39) |
F81S |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,814,122 (GRCm39) |
I223T |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Ces2f |
A |
G |
8: 105,676,678 (GRCm39) |
D124G |
probably damaging |
Het |
| Cks1brt |
A |
G |
8: 85,898,234 (GRCm39) |
Y29C |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,484,110 (GRCm39) |
S388P |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,568,496 (GRCm39) |
I844T |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,646,678 (GRCm39) |
W396* |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,850,224 (GRCm39) |
S449T |
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,007,195 (GRCm39) |
P822L |
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,909,883 (GRCm39) |
P147A |
probably damaging |
Het |
| Dennd2a |
C |
T |
6: 39,473,907 (GRCm39) |
|
probably null |
Het |
| Dgkg |
T |
C |
16: 22,298,157 (GRCm39) |
M743V |
possibly damaging |
Het |
| Dhx35 |
C |
T |
2: 158,671,501 (GRCm39) |
R311W |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,660,049 (GRCm39) |
V273E |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,146,832 (GRCm39) |
I1437S |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,408,056 (GRCm39) |
D450G |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,334 (GRCm39) |
V934I |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,015,010 (GRCm39) |
F236L |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,747,498 (GRCm39) |
I247V |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,947,120 (GRCm39) |
C451G |
probably benign |
Het |
| Fam124a |
T |
G |
14: 62,824,883 (GRCm39) |
W126G |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,975,625 (GRCm39) |
I257T |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,304 (GRCm39) |
K6E |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,735,131 (GRCm39) |
W1149* |
probably null |
Het |
| Glud1 |
C |
T |
14: 34,060,795 (GRCm39) |
R453* |
probably null |
Het |
| Gtf2f1 |
G |
A |
17: 57,318,125 (GRCm39) |
|
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,024,994 (GRCm39) |
D532V |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,184,975 (GRCm39) |
R122H |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,467 (GRCm39) |
Y95* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,061,556 (GRCm39) |
W35R |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,017,361 (GRCm39) |
R1115Q |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,142,239 (GRCm39) |
E239G |
probably damaging |
Het |
| Map3k7 |
A |
T |
4: 32,019,519 (GRCm39) |
E553D |
probably damaging |
Het |
| Mdh1 |
G |
T |
11: 21,512,926 (GRCm39) |
S146* |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,548,494 (GRCm39) |
W5933L |
probably benign |
Het |
| Myo16 |
C |
A |
8: 10,620,401 (GRCm39) |
P1651T |
probably damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,915,386 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,230 (GRCm39) |
Y220N |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,876,054 (GRCm39) |
N254I |
possibly damaging |
Het |
| Peli3 |
A |
T |
19: 4,991,850 (GRCm39) |
C30* |
probably null |
Het |
| Plb1 |
T |
A |
5: 32,512,731 (GRCm39) |
M1363K |
probably damaging |
Het |
| Rbm20 |
T |
G |
19: 53,840,060 (GRCm39) |
S1016R |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,026 (GRCm39) |
L143Q |
possibly damaging |
Het |
| Retreg1 |
G |
A |
15: 25,940,985 (GRCm39) |
G3D |
unknown |
Het |
| Rrm2 |
A |
G |
12: 24,758,956 (GRCm39) |
N65D |
probably benign |
Het |
| Samhd1 |
G |
T |
2: 156,965,219 (GRCm39) |
H199N |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,969 (GRCm39) |
L400* |
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,522,862 (GRCm39) |
M486K |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,536,456 (GRCm39) |
Y133N |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,601,945 (GRCm39) |
F1439Y |
unknown |
Het |
| Srpra |
T |
C |
9: 35,122,670 (GRCm39) |
V29A |
possibly damaging |
Het |
| St3gal1 |
T |
C |
15: 66,981,499 (GRCm39) |
T226A |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,813 (GRCm39) |
I105F |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,061,506 (GRCm39) |
*177W |
probably null |
Het |
| Utrn |
T |
A |
10: 12,610,921 (GRCm39) |
N478I |
probably damaging |
Het |
| Zbtb37 |
T |
C |
1: 160,859,432 (GRCm39) |
Y291C |
probably damaging |
Het |
| Zc3h3 |
T |
G |
15: 75,709,459 (GRCm39) |
H470P |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,395,863 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp457 |
T |
C |
13: 67,440,874 (GRCm39) |
N567S |
probably benign |
Het |
| Zfp458 |
C |
T |
13: 67,408,217 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,478 (GRCm39) |
I158N |
possibly damaging |
Het |
|
| Other mutations in Ppp4r4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00827:Ppp4r4
|
APN |
12 |
103,545,335 (GRCm39) |
missense |
probably benign |
|
|
IGL01388:Ppp4r4
|
APN |
12 |
103,543,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Ppp4r4
|
APN |
12 |
103,569,225 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01768:Ppp4r4
|
APN |
12 |
103,547,664 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01894:Ppp4r4
|
APN |
12 |
103,559,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01921:Ppp4r4
|
APN |
12 |
103,542,569 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
IGL01960:Ppp4r4
|
APN |
12 |
103,547,753 (GRCm39) |
splice site |
probably benign |
|
|
IGL02084:Ppp4r4
|
APN |
12 |
103,566,657 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02287:Ppp4r4
|
APN |
12 |
103,553,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02315:Ppp4r4
|
APN |
12 |
103,566,620 (GRCm39) |
splice site |
probably benign |
|
|
IGL03137:Ppp4r4
|
APN |
12 |
103,547,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03170:Ppp4r4
|
APN |
12 |
103,557,033 (GRCm39) |
intron |
probably benign |
|
|
cataract
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
|
downfall
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Ppp4r4
|
UTSW |
12 |
103,542,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0390:Ppp4r4
|
UTSW |
12 |
103,567,619 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Ppp4r4
|
UTSW |
12 |
103,550,361 (GRCm39) |
missense |
probably benign |
|
|
R0548:Ppp4r4
|
UTSW |
12 |
103,579,074 (GRCm39) |
nonsense |
probably null |
|
|
R0601:Ppp4r4
|
UTSW |
12 |
103,566,779 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Ppp4r4
|
UTSW |
12 |
103,566,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1127:Ppp4r4
|
UTSW |
12 |
103,545,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Ppp4r4
|
UTSW |
12 |
103,542,582 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1378:Ppp4r4
|
UTSW |
12 |
103,547,751 (GRCm39) |
splice site |
probably benign |
|
|
R1442:Ppp4r4
|
UTSW |
12 |
103,564,504 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1497:Ppp4r4
|
UTSW |
12 |
103,573,204 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1651:Ppp4r4
|
UTSW |
12 |
103,550,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1797:Ppp4r4
|
UTSW |
12 |
103,564,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1880:Ppp4r4
|
UTSW |
12 |
103,571,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2008:Ppp4r4
|
UTSW |
12 |
103,552,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Ppp4r4
|
UTSW |
12 |
103,542,539 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2404:Ppp4r4
|
UTSW |
12 |
103,547,749 (GRCm39) |
splice site |
probably null |
|
|
R2696:Ppp4r4
|
UTSW |
12 |
103,547,653 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2849:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2965:Ppp4r4
|
UTSW |
12 |
103,579,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3030:Ppp4r4
|
UTSW |
12 |
103,573,215 (GRCm39) |
missense |
probably benign |
|
|
R3805:Ppp4r4
|
UTSW |
12 |
103,566,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3862:Ppp4r4
|
UTSW |
12 |
103,562,680 (GRCm39) |
nonsense |
probably null |
|
|
R4194:Ppp4r4
|
UTSW |
12 |
103,524,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Ppp4r4
|
UTSW |
12 |
103,564,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4558:Ppp4r4
|
UTSW |
12 |
103,573,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Ppp4r4
|
UTSW |
12 |
103,557,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4866:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4903:Ppp4r4
|
UTSW |
12 |
103,557,030 (GRCm39) |
splice site |
probably null |
|
|
R5309:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
|
R5312:Ppp4r4
|
UTSW |
12 |
103,573,147 (GRCm39) |
splice site |
probably null |
|
|
R5381:Ppp4r4
|
UTSW |
12 |
103,559,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5383:Ppp4r4
|
UTSW |
12 |
103,550,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5447:Ppp4r4
|
UTSW |
12 |
103,550,410 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5942:Ppp4r4
|
UTSW |
12 |
103,553,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6339:Ppp4r4
|
UTSW |
12 |
103,571,228 (GRCm39) |
nonsense |
probably null |
|
|
R6386:Ppp4r4
|
UTSW |
12 |
103,559,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6712:Ppp4r4
|
UTSW |
12 |
103,562,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Ppp4r4
|
UTSW |
12 |
103,551,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Ppp4r4
|
UTSW |
12 |
103,557,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Ppp4r4
|
UTSW |
12 |
103,518,179 (GRCm39) |
splice site |
probably null |
|
|
R7355:Ppp4r4
|
UTSW |
12 |
103,570,841 (GRCm39) |
nonsense |
probably null |
|
|
R7397:Ppp4r4
|
UTSW |
12 |
103,579,065 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7447:Ppp4r4
|
UTSW |
12 |
103,551,985 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7576:Ppp4r4
|
UTSW |
12 |
103,562,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7653:Ppp4r4
|
UTSW |
12 |
103,550,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7683:Ppp4r4
|
UTSW |
12 |
103,553,364 (GRCm39) |
nonsense |
probably null |
|
|
R7748:Ppp4r4
|
UTSW |
12 |
103,571,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7831:Ppp4r4
|
UTSW |
12 |
103,557,080 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7833:Ppp4r4
|
UTSW |
12 |
103,564,407 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8238:Ppp4r4
|
UTSW |
12 |
103,557,066 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8559:Ppp4r4
|
UTSW |
12 |
103,559,420 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8674:Ppp4r4
|
UTSW |
12 |
103,562,720 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8799:Ppp4r4
|
UTSW |
12 |
103,567,623 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8847:Ppp4r4
|
UTSW |
12 |
103,562,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Ppp4r4
|
UTSW |
12 |
103,566,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9075:Ppp4r4
|
UTSW |
12 |
103,570,290 (GRCm39) |
nonsense |
probably null |
|
|
R9106:Ppp4r4
|
UTSW |
12 |
103,570,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9393:Ppp4r4
|
UTSW |
12 |
103,571,296 (GRCm39) |
nonsense |
probably null |
|
|
R9508:Ppp4r4
|
UTSW |
12 |
103,542,561 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9520:Ppp4r4
|
UTSW |
12 |
103,500,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9636:Ppp4r4
|
UTSW |
12 |
103,564,688 (GRCm39) |
missense |
unknown |
|
|
R9641:Ppp4r4
|
UTSW |
12 |
103,567,811 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9766:Ppp4r4
|
UTSW |
12 |
103,562,735 (GRCm39) |
missense |
probably benign |
0.40 |
|
X0025:Ppp4r4
|
UTSW |
12 |
103,566,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTAGTTCACAGGAGATATTAG -3'
(R):5'- ACAAGTCTCAAGCAGCCTTTG -3'
Sequencing Primer
(F):5'- GTATTTCTTATCCCCGTGGCTG -3'
(R):5'- TGCTCCCTGCTAGCAATGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation